| Literature DB >> 22088931 |
Nadira Kadi1, Latifa Tahiri, Mariame Maziane, Fatima Zahra Mernissi, Taoufik Harzy.
Abstract
Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. This gene may be involved in secretory functions of glands such as ovarian function. Premature ovarian failure is idiopathic in 80% of cases but may be secondary to multiple etiologies including genetic. We report the case of a patient with proximal symphalangism and premature ovarian failure, and we discuss the possibility of genetic relationship between the two anomalies.Entities:
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Year: 2011 PMID: 22088931 DOI: 10.1016/j.jbspin.2011.05.029
Source DB: PubMed Journal: Joint Bone Spine ISSN: 1297-319X Impact factor: 4.929